A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446884



Internal ID14947148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127312491..127312512hg38UCSC Ensembl
Innerchr9:127312494..127312509hg38UCSC Ensembl
Outerchr9:127312473..127312530hg38UCSC Ensembl
chr9:130074770..130074791hg19UCSC Ensembl
Innerchr9:130074773..130074788hg19UCSC Ensembl
Outerchr9:130074752..130074809hg19UCSC Ensembl
chr9:129114591..129114612hg18UCSC Ensembl
Innerchr9:129114609..129114594hg18UCSC Ensembl
Outerchr9:129114573..129114630hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8946315, essv8946310, essv8946314, essv8946312, essv8946311, essv8946309
SamplesNA18550, NA18564, NA18961, NA18945, NA18577, NA18571
Known GenesGARNL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446884
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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